Forensic typing of short tandem repeat markers on the X and Y chromosomes

Diegoli, Toni M.

doi:10.1016/j.fsigen.2015.03.013

Cited by 70 publications

(44 citation statements)

References 235 publications

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“…(). However, considering that some multilocus markers can be diagnostic and are currently included in forensic panels (see Diegoli for a review), we did not limit our selection to single‐copy regions.…”

Section: Introductionmentioning

confidence: 99%

Novel Y‐chromosome short tandem repeats in Sus scrofa and their variation in European wild boar and domestic pig populations

et al. 2016

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SummaryY-chromosome markers are important tools for studying male-specific gene flow within and between populations, hybridization patterns and kinship. However, their use in non-human mammals is often hampered by the lack of Y-specific polymorphic markers. We identified new male-specific short tandem repeats (STRs) in Sus scrofa using the available genome sequence. We selected four polymorphic loci (5-10 alleles per locus), falling in one duplicated and two single-copy regions. A total of 32 haplotypes were found by screening 211 individuals from eight wild boar populations across Europe and five domestic pig populations. European wild boar were characterized by significantly higher levels of haplotype diversity compared to European domestic pigs (H D = 0.904 AE 0.011 and H D = 0.491 AE 0.077 respectively). Relationships among STR haplotypes were investigated by combining them with single nucleotide polymorphisms at two linked genes (AMELY and UTY) in a network analysis. A differentiation between wild and domestic populations was observed (F ST = 0.229), with commercial breeds sharing no Y haplotype with the sampled wild boar. Similarly, a certain degree of geographic differentiation was observed across Europe, with a number of local private haplotypes and high diversity in northern populations. The described Y-chromosome markers can be useful to track male inheritance and gene flow in wild and domestic populations, promising to provide insights into evolutionary and population genetics in Sus scrofa.

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Section: Introductionmentioning

confidence: 99%

Novel Y‐chromosome short tandem repeats in Sus scrofa and their variation in European wild boar and domestic pig populations

et al. 2016

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“…Raluca Dumache 1,3 *, Veronica Ciocan 1,2 , Camelia Muresan 1,2 , Ramona Parvanescu 3,4 and Alexandra Enache 1,2…”

Section: Author Detailsunclassified

“…The new markers added to the common core of 13 STR markers aid in human identification and in kinship analysis of missing persons due to a better power of discrimination [2]. In order to confirm the identity of a person, it is necessary to perform a comparative study of DNA profiles belonging to that person and a first-degree relative (mother/father; brother-sister), in which the respecting of the classical laws for transmitting the hereditary characters is followed, so that a maternal allele and a paternal allele are found on a DNA locus [3,4]. Within a paternity investigation, the child's mother being presumed as being certain, the child's DNA profile presents a lot of alleles that are found in the presumptive father profile besides the maternal alleles; we can speak about a confirmation of paternity that is always expressed in probability terms.…”

Section: Introductionmentioning

confidence: 99%

Advantages of Salivary DNA in Human Identification

Dumache¹,

Ciocan²,

Muresan³

et al. 2019

Saliva and Salivary Diagnostics

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Since two and a half decades, in human identification, the short tandem repeat (STR) markers represent the "gold standard." Besides them, haploid markers such as X-STR and Y-STR are also used to complement the autosomal markers. In human identification, DNA from body fluids, especially saliva, represents an important tool. The aim of this chapter is to present the importance of analyzing X-STR markers in a relatedness case between a sister and her presumptive brother, a carbonized victim using body fluids for their DNA identification. Our laboratory had to establish the relatedness between a woman and her presumptive brother (PB), who was the victim of a car accident explosion. In this case, as reference sample we used saliva collected on swabs from the woman and blood sample from the deceased victim. For the DNA extraction, DNA IQ Casework (Promega, USA) was used. DNA quantification was done with PowerQuant System kit (Promega, USA). Furthermore, the DNA samples were amplified with Investigator 24plex QS (Qiagen, Germany) for the STR markers and Investigator Argus 12-X QS kit (Qiagen, Germany) for the X-STR markers. The amplified DNA products were separated by capillary electrophoresis on a 3500 Genetic Analyzer. In this case, full genetic profiles were obtained for the woman and her presumptive brother on both STR and X-STR markers. Thus, we could confirm a full sibling relationship between them. Since the introduction of DNA in human identification, it represents a useful tool in establishing sibling relationship from different biological samples.

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“…Intergenic microsatellites seem to fit neutral evolution models, although not perfectly [69], and are among the most variable genomic sequences [32]. Therefore, they serve as the basis for forensic DNA analyses and as markers for population genetics studies [24, 61, 65, 236]. …”

Section: Origin and Expansion Of Microsatellites In Human Diseasementioning

confidence: 99%

RNA biology of disease-associated microsatellite repeat expansions

Rohilla

Gagnon

2017

acta neuropathol commun

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Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA in this review, which can mediate molecular disease pathology in multiple ways. This review focuses on the potential impact that simple tandem repeat expansions can have on the biology and metabolism of RNA that contain them and underscores important gaps in understanding. Merging the molecular biology of repeat expansion disorders with the current understanding of RNA biology, including splicing, transcription, transport, turnover and translation, will help clarify mechanisms of disease and improve therapeutic development.

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Forensic typing of short tandem repeat markers on the X and Y chromosomes

Cited by 70 publications

References 235 publications

Novel Y‐chromosome short tandem repeats in Sus scrofa and their variation in European wild boar and domestic pig populations

Novel Y‐chromosome short tandem repeats in Sus scrofa and their variation in European wild boar and domestic pig populations

Advantages of Salivary DNA in Human Identification

RNA biology of disease-associated microsatellite repeat expansions

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